V52I (p.Val52Ile) variant of PPARG (P37231)
V52I (p.Val52Ile) in PPARG (P37231) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- rs149324518
- ClinGen CA2258094
- cosmic curated COSV10804
- ClinVar RCV004531724
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.02
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available